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We aimed to determine the frequency of variants in the Alport syndrome genes (\n                      <jats:italic>COL4A3<\/jats:italic>\n                      ,\n                      <jats:italic>COL4A4<\/jats:italic>\n                      or\n                      <jats:italic>COL4A5<\/jats:italic>\n                      ) in individuals under 18 years of age presenting with persistent microscopic haematuria to a single specialist centre in the UK over a 10-year period.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We conducted a retrospective longitudinal study of individuals referred to a tertiary paediatric nephrology service with persistent microscopic haematuria between April 2012 to 2022.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A total of 224 individuals (female 51.8%) were evaluated with persistent microscopic haematuria of greater than 6 months duration. The age at presentation was 7.5\u2009\u00b1\u20094.3 years (mean\u2009\u00b1\u2009SD) with a duration of follow-up of 6.8\u2009\u00b1\u20094.6 years (mean\u2009\u00b1\u2009SD). Targeted exome sequencing was performed in 134 individuals and 91 (68%) had a pathogenic or likely pathogenic variant in\n                      <jats:italic>COL4A3<\/jats:italic>\n                      ,\n                      <jats:italic>COL4A4<\/jats:italic>\n                      or\n                      <jats:italic>COL4A5<\/jats:italic>\n                      . Only 49.5% of individuals with identified variants had a family history of microscopic haematuria documented and 37.4% (34\/91) had additional proteinuria at presentation.\n                      <jats:italic>COL4A5<\/jats:italic>\n                      was the most common gene affected and missense variants affecting glycine residues were the most common variant type.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Over two-thirds of children and young people who underwent genetic testing had an identifiable genetic basis for their microscopic haematuria and over half did not have a documented family history. Genetic testing should be part of the evaluation of persistent microscopic haematuria despite a negative family history.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Graphical abstract<\/jats:title>\n                  <\/jats:sec>","DOI":"10.1007\/s00467-024-06538-8","type":"journal-article","created":{"date-parts":[[2024,10,1]],"date-time":"2024-10-01T00:49:35Z","timestamp":1727743775000},"page":"719-729","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Detection of Alport gene variants in children and young people with persistent haematuria"],"prefix":"10.1007","volume":"40","author":[{"given":"Natasha Su Lynn","family":"Ng","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomohiko","family":"Yamamura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohan","family":"Shenoy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen M.","family":"Stuart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6400-0227","authenticated-orcid":false,"given":"Rachel","family":"Lennon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,10,1]]},"reference":[{"key":"6538_CR1","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1016\/j.paed.2012.02.011","volume":"22","author":"A Lunn","year":"2012","unstructured":"Lunn A, Forbes TA (2012) Haematuria and proteinuria in childhood. 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